Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100257	HP:0100257	Ectrodactyly	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome		5
HP:0100257	HP:0100257	Ectrodactyly	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0100257	HP:0100257	Ectrodactyly	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0100257	HP:0100257	Ectrodactyly	0	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex	HP:0040281 - Very frequent	4
HP:0100257	HP:0100257	Ectrodactyly	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040282 - Frequent	4
HP:0100257	HP:0100257	Ectrodactyly	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0100257	HP:0100257	Ectrodactyly	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0100257	HP:0100257	Ectrodactyly	0	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation		2
HP:0100257	HP:0100257	Ectrodactyly	0	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome		87
HP:0100257	HP:0100257	Ectrodactyly	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040281 - Very frequent	87
HP:0100257	HP:0100257	Ectrodactyly	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0100257	HP:0100257	Ectrodactyly	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0100257	HP:0100257	Ectrodactyly	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100257	HP:0100257	Ectrodactyly	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100257	HP:0100257	Ectrodactyly	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0100257	HP:0100257	Ectrodactyly	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0100257	HP:0100257	Ectrodactyly	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0100257	HP:0100257	Ectrodactyly	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0100257	HP:0100257	Ectrodactyly	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0100257	HP:0100257	Ectrodactyly	0	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation		3
HP:0100257	HP:0100257	Ectrodactyly	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1	.	3
HP:0100257	HP:0100257	Ectrodactyly	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss		3
HP:0100257	HP:0100257	Ectrodactyly	0	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation
HP:0100257	HP:0100257	Ectrodactyly	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0100257	HP:0100257	Ectrodactyly	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0100257	HP:0100257	Ectrodactyly	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0100257	HP:0100257	Ectrodactyly	0	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation
HP:0100257	HP:0100257	Ectrodactyly	0	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation		37
HP:0100257	HP:0100257	Ectrodactyly	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome		172
HP:0100257	HP:0100257	Ectrodactyly	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0100257	HP:0100257	Ectrodactyly	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	HP:0040283 - Occasional	172
HP:0100257	HP:0100257	Ectrodactyly	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome		175
HP:0100257	HP:0100257	Ectrodactyly	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1		145
HP:0100257	HP:0100257	Ectrodactyly	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100257	HP:0100257	Ectrodactyly	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0100257	HP:0100257	Ectrodactyly	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0100257	HP:0100257	Ectrodactyly	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0100257	HP:0100257	Ectrodactyly	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0100257	HP:0100257	Ectrodactyly	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta		240
HP:0100257	HP:0100257	Ectrodactyly	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0100257	HP:0100257	Ectrodactyly	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0100257	HP:0100257	Ectrodactyly	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0100257	HP:0100257	Ectrodactyly	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0100257	HP:0100257	Ectrodactyly	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0100257	HP:0100257	Ectrodactyly	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0100257	HP:0100257	Ectrodactyly	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E		135
HP:0100257	HP:0100257	Ectrodactyly	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0100257	HP:0100257	Ectrodactyly	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome		8
HP:0100257	HP:0100257	Ectrodactyly	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0100257	HP:0100257	Ectrodactyly	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100257	HP:0100257	Ectrodactyly	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0100257	HP:0100257	Ectrodactyly	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome		2
HP:0100257	HP:0100257	Ectrodactyly	0	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly		2
HP:0100257	HP:0100257	Ectrodactyly	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0100257	HP:0100257	Ectrodactyly	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional	22
HP:0100257	HP:0100257	Ectrodactyly	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0100257	HP:0100257	Ectrodactyly	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0100257	HP:0100257	Ectrodactyly	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0100257	HP:0100257	Ectrodactyly	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0100257	HP:0100257	Ectrodactyly	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0100257	HP:0100257	Ectrodactyly	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0100257	HP:0100257	Ectrodactyly	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0100257	HP:0100257	Ectrodactyly	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G		118
HP:0100257	HP:0100257	Ectrodactyly	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0100257	HP:0100257	Ectrodactyly	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0100257	HP:0100257	Ectrodactyly	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100257	HP:0100257	Ectrodactyly	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0100257	HP:0100257	Ectrodactyly	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0100257	HP:0100257	Ectrodactyly	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0100257	HP:0100257	Ectrodactyly	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0100257	HP:0100257	Ectrodactyly	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0100257	HP:0100257	Ectrodactyly	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0100257	HP:0100257	Ectrodactyly	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0100257	HP:0100257	Ectrodactyly	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0100257	HP:0100257	Ectrodactyly	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0100257	HP:0100257	Ectrodactyly	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0100257	HP:0100257	Ectrodactyly	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0100257	HP:0100257	Ectrodactyly	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0100257	HP:0100257	Ectrodactyly	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0100257	HP:0100257	Ectrodactyly	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0100257	HP:0100257	Ectrodactyly	0	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation
HP:0100257	HP:0100257	Ectrodactyly	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0100257	HP:0100257	Ectrodactyly	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2		47
HP:0100257	HP:0100257	Ectrodactyly	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0100257	HP:0100257	Ectrodactyly	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome		123
HP:0100257	HP:0100257	Ectrodactyly	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0100257	HP:0100257	Ectrodactyly	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome		140
HP:0100257	HP:0100257	Ectrodactyly	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome		140
HP:0100257	HP:0100257	Ectrodactyly	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0100257	HP:0100257	Ectrodactyly	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:0100257	HP:0100257	Ectrodactyly	0	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation		140
HP:0100257	HP:0100257	Ectrodactyly	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome		140
HP:0100257	HP:0100257	Ectrodactyly	0	TP63 CL E G H	8626	15979	OMIM:605289	Split-Hand/foot malformation 4	.	140
HP:0100257	HP:0100257	Ectrodactyly	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0100257	HP:0100257	Ectrodactyly	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0100257	HP:0100257	Ectrodactyly	0	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation		4
HP:0100257	HP:0100257	Ectrodactyly	0	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0100257	HP:0100257	Ectrodactyly	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0100257	HP:0100257	Ectrodactyly	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0100257	HP:0001171	Split hand	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent	5
HP:0100257	HP:0001171	Split hand	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	147
HP:0100257	HP:0001171	Split hand	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0100257	HP:0001171	Split hand	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040281 - Very frequent	4
HP:0100257	HP:0001171	Split hand	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional	105
HP:0100257	HP:0001171	Split hand	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0100257	HP:0001171	Split hand	1	BTRC CL E G H	8945	1144	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	2
HP:0100257	HP:0001171	Split hand	1	CDH3 CL E G H	1001	1762	OMIM:225280	Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	.	87
HP:0100257	HP:0001171	Split hand	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100257	HP:0001171	Split hand	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0100257	HP:0001171	Split hand	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100257	HP:0001171	Split hand	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0100257	HP:0001171	Split hand	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0100257	HP:0001171	Split hand	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10		159
HP:0100257	HP:0001171	Split hand	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0100257	HP:0001171	Split hand	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	9
HP:0100257	HP:0001171	Split hand	1	DLX5 CL E G H	1749	2918	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	3
HP:0100257	HP:0001171	Split hand	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1	HP:0040281 - Very frequent	3
HP:0100257	HP:0001839	Split foot	1	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1	HP:0040281 - Very frequent	3
HP:0100257	HP:0001171	Split hand	1	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	.	3
HP:0100257	HP:0001839	Split foot	1	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	.	3
HP:0100257	HP:0001171	Split hand	1	DLX6 CL E G H	1750	2919	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0100257	HP:0001171	Split hand	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	18
HP:0100257	HP:0001171	Split hand	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0100257	HP:0001171	Split hand	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	4
HP:0100257	HP:0001171	Split hand	1	EPS15L1 CL E G H	58513	24634	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0100257	HP:0001171	Split hand	1	FBXW4 CL E G H	6468	10847	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	37
HP:0100257	HP:0001171	Split hand	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040282 - Frequent	172
HP:0100257	HP:0001839	Split foot	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040283 - Occasional	175
HP:0100257	HP:0001171	Split hand	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040281 - Very frequent	145
HP:0100257	HP:0001171	Split hand	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100257	HP:0001171	Split hand	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0100257	HP:0001171	Split hand	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	108
HP:0100257	HP:0001839	Split foot	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0100257	HP:0001171	Split hand	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040282 - Frequent	270
HP:0100257	HP:0001171	Split hand	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0100257	HP:0001171	Split hand	1	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0100257	HP:0001171	Split hand	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0100257	HP:0001171	Split hand	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.	98
HP:0100257	HP:0001171	Split hand	1	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0100257	HP:0001171	Split hand	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0100257	HP:0001171	Split hand	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0100257	HP:0001171	Split hand	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040283 - Occasional	99
HP:0100257	HP:0001171	Split hand	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent	8
HP:0100257	HP:0001171	Split hand	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	1
HP:0100257	HP:0001171	Split hand	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0100257	HP:0001171	Split hand	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100257	HP:0001171	Split hand	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0100257	HP:0001171	Split hand	1	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly		2
HP:0100257	HP:0001839	Split foot	1	MAP3K20 CL E G H	51776	17797	OMIM:616890	Split-Foot malformation with mesoaxial polydactyly		2
HP:0100257	HP:0001839	Split foot	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0100257	HP:0001171	Split hand	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0100257	HP:0001171	Split hand	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0100257	HP:0001171	Split hand	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0100257	HP:0001171	Split hand	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	HP:0040283 - Occasional	8
HP:0100257	HP:0001171	Split hand	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0100257	HP:0001171	Split hand	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0100257	HP:0001171	Split hand	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional	82
HP:0100257	HP:0001171	Split hand	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0100257	HP:0001171	Split hand	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0100257	HP:0001171	Split hand	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	452
HP:0100257	HP:0001171	Split hand	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0100257	HP:0001171	Split hand	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100257	HP:0001171	Split hand	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0100257	HP:0001171	Split hand	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0100257	HP:0001171	Split hand	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0100257	HP:0001171	Split hand	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional	79
HP:0100257	HP:0001171	Split hand	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0100257	HP:0001171	Split hand	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0100257	HP:0001839	Split foot	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0100257	HP:0001839	Split foot	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0100257	HP:0001171	Split hand	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0100257	HP:0001171	Split hand	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0100257	HP:0001171	Split hand	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0100257	HP:0001171	Split hand	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent	3
HP:0100257	HP:0001171	Split hand	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0100257	HP:0001171	Split hand	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0100257	HP:0001171	Split hand	1	SEM1 CL E G H	7979	10845	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional
HP:0100257	HP:0001171	Split hand	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	HP:0040283 - Occasional	6
HP:0100257	HP:0001171	Split hand	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0100257	HP:0001171	Split hand	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0100257	HP:0001171	Split hand	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040281 - Very frequent	123
HP:0100257	HP:0001171	Split hand	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0100257	HP:0001171	Split hand	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0100257	HP:0001839	Split foot	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0100257	HP:0001839	Split foot	1	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040281 - Very frequent	140
HP:0100257	HP:0001171	Split hand	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0100257	HP:0001839	Split foot	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0100257	HP:0001171	Split hand	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:0100257	HP:0001839	Split foot	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040281 - Very frequent	140
HP:0100257	HP:0001171	Split hand	1	TP63 CL E G H	8626	15979	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	140
HP:0100257	HP:0001839	Split foot	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0100257	HP:0001171	Split hand	1	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0100257	HP:0001839	Split foot	1	TP63 CL E G H	8626	15979	OMIM:605289	Split-Hand/foot malformation 4	.	140
HP:0100257	HP:0001171	Split hand	1	TP63 CL E G H	8626	15979	OMIM:605289	Split-Hand/foot malformation 4	.	140
HP:0100257	HP:0001839	Split foot	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0100257	HP:0001171	Split hand	1	WNT10B CL E G H	7480	12775	ORPHA:2440	Isolated split hand-split foot malformation	HP:0040283 - Occasional	4
HP:0100257	HP:0001171	Split hand	1	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0100257	HP:0001839	Split foot	1	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4
HP:0100257	HP:0001171	Split hand	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	HP:0040282 - Frequent	13